Article
De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+).
Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2020
Jaimes Alex, Guerrero-López Rosa, González-Giráldez Beatriz, Serratosa Jose M
Abstract excerpt
SCN1A is one of the most relevant epilepsy genes. In general, de novo severe mutations, such as truncating mutations, lead to a classic form of Dravet syndrome (DS), while missense mutations are associated with both DS and milder phenotypes within the GEFS+ spectrum, however, these phenotype-genotype correlations are not entirely consistent. Case report. We report an 18-year-old woman with a history of recurrent...
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